ClinVar Miner

Variants studied for COG8-congenital disorder of glycosylation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
7 6 88 59 15 157

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COG8 5 5 68 44 10 119
COG8, LOC130059304 2 1 12 10 3 24
COG8, PDF 0 0 6 0 2 8
COG8, LOC130059305 0 0 1 2 0 3
COG8, LOC130059306 0 0 1 3 0 3

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 2 1 49 55 12 119
Illumina Laboratory Services, Illumina 0 0 32 3 6 41
Fulgent Genetics, Fulgent Genetics 0 0 5 2 0 7
OMIM 4 0 0 0 0 4
Baylor Genetics 0 0 3 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 0 0 3
Revvity Omics, Revvity 0 1 2 0 0 3
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Suma Genomics 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1

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